Human Phenotype Ontology / 人类表型本体

Last uploaded: September 7, 2023
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Preferred Name

Leber optic atrophy
Synonyms

Leber optic degeneration

Leber optic atrophy features
Definitions

Degeneration of retinal ganglion cells and their axons.
ID

http://purl.obolibrary.org/obo/HP_0001112
database_cross_reference

UMLS:C0917796

MSH:D029242

SNOMEDCT_US:58610003
definition

Degeneration of retinal ganglion cells and their axons.
has_alternative_id

HP:0001086
has_exact_synonym

Leber optic degeneration

Leber optic atrophy features
has_obo_namespace

human_phenotype
id

HP:0001112
label

Leber optic atrophy
notation

HP:0001112
prefLabel

Leber optic atrophy
treeView

http://purl.obolibrary.org/obo/HP_0000587
subClassOf

http://purl.obolibrary.org/obo/HP_0000587
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http://purl.bioontology.org/ontology/OMIM/535000 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM